0000000000222646

AUTHOR

S. Nischwitz

showing 4 related works from this author

Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

2016

Genome-wide study in Germans identifies four novel multiple sclerosis risk genes and confirms already known gene loci.

0301 basic medicineMaleDLEU1MedizinGenome-wide association studyEpigenesis GeneticCohort StudiesResearch ArticlesTranscriptional Regulator ERGGeneticsAged 80 and overGlycine Hydroxymethyltransferaseeducation.field_of_studyMultidisciplinaryDNA methylationSciAdv r-articlesMiddle AgedSHMT13. Good healthddc:DNA-Binding ProteinsERGDNA methylationFemaleMAZFunction and Dysfunction of the Nervous SystemResearch ArticleAdultAdolescentPopulationQuantitative Trait Loci610 Medicine & healthDleu1 ; Dna Methylation ; Erg ; L3mbtl3 ; Maz ; Multiple Sclerosis ; Shmt1 ; Genome-wide Association StudyQuantitative trait locusBiologyMajor histocompatibility complexNeurological DisordersMultiple sclerosis03 medical and health sciencesYoung AdultTranscriptional Regulator ERGHumansGenetic Predisposition to DiseaseL3MBTL3EpigeneticsAlleleeducationAllelesAgedgenome-wide association study030104 developmental biologyGenetic LociCase-Control Studiesbiology.proteinTranscription Factors
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Successful Replication of GWAS Hits for Multiple Sclerosis in 10,000 Germans Using the Exome Array

2015

Genome-wide association studies (GWAS) successfully identified various chromosomal regions to be associated with multiple sclerosis (MS). The primary aim of this study was to replicate reported associations from GWAS using an exome array in a large German study. German MS cases (n = 4,476) and German controls (n = 5,714) were genotyped using the Illumina HumanExome v1-Chip. Genotype calling was performed with the Illumina Genome Studio(TM) Genotyping Module, followed by zCall. Single-nucleotide polymorphisms (SNPs) in seven regions outside the human leukocyte antigen (HLA) region showed genome-wide significant associations with MS (P values < 5 × 10(-8) ). These associations have been repor…

Geneticseducation.field_of_studyEpidemiologyPopulationGenome-wide association studySingle-nucleotide polymorphismHuman leukocyte antigenBiologySNPeducationExomeGenotypingGenetics (clinical)Genetic associationGenetic Epidemiology
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Longitudinal prevalence and determinants of pain in multiple sclerosis: results from the German National Multiple Sclerosis Cohort study

2020

Pain is frequent in multiple sclerosis (MS) and includes different types, with neuropathic pain (NP) being most closely related to MS pathology. However, prevalence estimates vary largely, and causal relationships between pain and biopsychosocial factors in MS are largely unknown. Longitudinal studies might help to clarify the prevalence and determinants of pain in MS. To this end, we analyzed data from 410 patients with newly diagnosed clinically isolated syndrome or relapsing-remitting MS participating in the prospective multicenter German National MS Cohort Study (NationMS) at baseline and after 4 years. Pain was assessed by self-report using the PainDETECT Questionnaire. Neuropsychiatri…

Biopsychosocial modelmedicine.medical_specialtyMultiple SclerosisCohort Studies03 medical and health sciences0302 clinical medicine030202 anesthesiologyInternal medicineEpidemiologyPrevalenceHumansMedicineProspective StudiesProspective cohort study610 Medicine &amp; healthFatigueDepression (differential diagnoses)Clinically isolated syndromeDepressionbusiness.industryMultiple sclerosismedicine.diseaseAnesthesiology and Pain MedicineNeurologyNeuropathic painNeurology (clinical)business030217 neurology & neurosurgeryCohort study
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DeepWAS: Multivariate genotype-phenotype associations by directly integrating regulatory information using deep learning

2020

Genome-wide association studies (GWAS) identify genetic variants associated with traits or diseases. GWAS never directly link variants to regulatory mechanisms. Instead, the functional annotation of variants is typically inferred by post hoc analyses. A specific class of deep learning-based methods allows for the prediction of regulatory effects per variant on several cell type-specific chromatin features. We here describe “DeepWAS”, a new approach that integrates these regulatory effect predictions of single variants into a multivariate GWAS setting. Thereby, single variants associated with a trait or disease are directly coupled to their impact on a chromatin feature in a cell type. Up to…

0301 basic medicineMultivariate analysisGene ExpressionGenome-wide association studyBiochemistry0302 clinical medicineGenotypeMedicine and Health SciencesBiology (General)0303 health sciencesDNA methylationEcologyChromosome BiologyNeurodegenerative DiseasesGenomicsChromatinChromatinNucleic acidsNeurologyComputational Theory and MathematicsModeling and SimulationDNA methylationTraitEpigeneticsDNA modificationFunction and Dysfunction of the Nervous SystemChromatin modificationResearch ArticleMultiple SclerosisQH301-705.5Quantitative Trait LociImmunologySingle-nucleotide polymorphismComputational biologyBiologyQuantitative trait locusPolymorphism Single NucleotideAutoimmune DiseasesMolecular Genetics03 medical and health sciencesCellular and Molecular NeuroscienceDeep LearningGenome-Wide Association StudiesGeneticsHumansGeneMolecular BiologyGenetic Association StudiesEcology Evolution Behavior and Systematics030304 developmental biologyGenetic associationBiology and Life SciencesComputational BiologyHuman GeneticsCell BiologyDNAGenome AnalysisDemyelinating Disorders030104 developmental biologyGenetic LociMultivariate AnalysisClinical ImmunologyClinical Medicine030217 neurology & neurosurgeryGenome-Wide Association StudyPLOS Computational Biology
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